Paralogue Annotation for RYR2 residue 395

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 395
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 395

No paralogue variants have been mapped to residue 395 for RYR2.

RYR2	HVDTGLWLTYQSVDVKSVRMGSIQRKAIMH>H<EGHMDDGISLSRSQHEESRTARVIRSTVFL	425
RYR1	HVASGLWLTYAAPDPKALRLGVLKKKAMLH>Q<EGHMDDALSLTRCQQEESQAARMIHSTNGL	409
RYR3	HIASGLWVTYKAQDAKTSRLGPLKRKVILH>Q<EGHMDDGLTLQRCQREESQAARIIRNTTAL	417
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H395Y	c.1183C>T	Putative Benign			SIFT: Polyphen: